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Understanding Glycogen Storage Disease Type 1b and its impacts.Glycogen storage disease type -
Hereditary Fructose intolerance HFI is an autosomal recessive genetic condition that causes an inability to digest fructose fruit sugar or its precursors sugar, sorbitol and brown sugar.
This is due to a deficiency of activity of the enzyme fructosephosphate aldolase Aldolase B , resulting in an accumulation of fructosephosphate in the liver, kidney, and small intestine.
Fructose and sucrose are naturally occurring sugars that are used as sweeteners in many foods, including many baby foods. This disorder can be life threatening in infants and ranges from mild to severe in older children and adults.
GSD type I is diagnosed by laboratory tests that indicate abnormal levels of glucose, lactate, uric acid, triglycerides and cholesterol.
Molecular genetic testing for the G6PC and SLC37A4 genes is available to confirm a diagnosis. Molecular genetic testing can also be used for carrier testing and prenatal diagnosis. Liver biopsy can also be used to prove specific enzyme deficiency for GSD Ia.
Treatment GSDI is treated with a special diet in order to maintain normal glucose levels, prevent hypoglycemia and maximize growth and development. Frequent small servings of carbohydrates must be maintained during the day and night throughout the life. Calcium, vitamin D and iron supplements maybe recommended to avoid deficits.
Frequent feedings of uncooked cornstarch are used to maintain and improve blood levels of glucose. Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like arthritis during the adolescent years.
Human granulocyte colony stimulating factor GCSF may be used to treat recurrent infections in GSD type Ib patients. Liver tumors adenomas can be treated with minor surgery or a procedure in which adenomas are ablated using heat and current radiofrequency ablation.
Individuals with GSDI should be monitored at least annually with kidney and liver ultrasound and routine blood work specifically used for monitoring GSD patients.
Information on current clinical trials is posted on the Internet at www. All studies receiving U. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the National Institutes of Health NIH in Bethesda, MD, contact the NIH Patient Recruitment Office:. Tollfree: TTY: Email: prpl cc.
For information about clinical trials sponsored by private sources, contact: www. TEXTBOOKS Chen YT, Bali DS. Prenatal Diagnosis of Disorders of Carbohydrate Metabolism. In: Milunsky A, Milunsky J, eds. Genetic disorders and the fetus — diagnosis, prevention, and treatment. West Sussex, UK: Wiley-Blackwell; Chen Y.
Glycogen storage disease and other inherited disorders of carbohydrate metabolism. In: Kasper DL, Braunwald E, Fauci A, et al. New York, NY: McGraw-Hill; Weinstein DA, Koeberl DD, Wolfsdorf JI. Type I Glycogen Storage Disease. In: NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott, Williams and Wilkins; JOURNAL ARTICLES Chou JY, Jun HS, Mansfield BC.
J Inherit Metab Dis. doi: Epub Oct 7. PubMed PMID: Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.
Genet Med. Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS. Menorrhagia in patients with type I glycogen storage disease. Obstet Gynecol ;— Dagli AI, Lee PJ, Correia CE, et al. Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries.
Chou JY, Mansfield BC. Mutations in the glucosephosphatase-alpha G6PC gene that cause type Ia glycogen storage disease. Hum Mutat. Franco LM, Krishnamurthy V, Bali D, et al.
Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. Lewis R, Scrutton M, Lee P, Standen GR, Murphy DJ.
Antenatal and Intrapartum care of a pregnant woman with glycogen storage disease type 1a. Eur J Obstet Gynecol Reprod Biol. Ekstein J, Rubin BY, Anderson, et al.
Mutation frequencies for glycogen storage disease in the Ashkenazi Jewish Population. Am J Med Genet A. Melis D, Parenti G, Della Casa R, et al. Brain Damage in glycogen storage disease type I.
J Pediatr. Patient Support and Advocacy Resources Disease InfoSearch National Organization for Rare Disorders NORD. Clinical Trials ClinicalTrials. Catalog of Genes and Diseases from OMIM GLYCOGEN STORAGE DISEASE V; GSD5.
Scientific Articles on PubMed PubMed. References Aquaron R, Berge-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, Coquet M, Serratrice G, Pouget J.
Molecular characterization of myophosphorylase deficiency McArdle disease in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. Neuromuscul Disord. doi: Epub Feb Citation on PubMed Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C.
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat. Citation on PubMed Deschauer M, Morgenroth A, Joshi PR, Glaser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M.
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. J Neurol.
Epub Apr 3. Citation on PubMed Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, Bellard TM, Brasileiro Filho G, Giannetti AV, de Castro Concentino EL, Vainzof M. Clinical and molecular characterization of McArdle's disease in Brazilian patients.
Neuromolecular Med. Epub May 8. Citation on PubMed Lucia A, Nogales-Gadea G, Perez M, Martin MA, Andreu AL, Arenas J. McArdle disease: what do neurologists need to know? Blood work is needed every six months.
Once a year, they need a kidney and liver ultrasound. Research into enzyme replacement therapy and gene therapy is promising and may improve the outlook for the future. CHOP will be a site for upcoming gene therapy clinical trials for types I and III.
The GSD Clinic will have more information. Glycogen Storage Disease GSD. Contact Us Online. Glycogen storage disorders occur in about one in 20, to 25, newborn babies. Manifestations of GSD often look like other health problems and may include: poor growth low blood glucose level hypoglycemia an enlarged liver may show as a bulging abdomen abnormal blood tests low muscle tone muscle pain and cramping during exercise too much acid in the blood acidosis fatigue A thorough medical history can also lead the doctor to suspect GSD since it is inherited.
Other diagnostic tests may include: blood tests to check blood glucose levels and how the liver, kidneys and muscles are functioning abdominal ultrasound to see if the liver is enlarged tissue biopsy to test a sample of tissue from muscle or liver to measure the level of glycogen or enzymes genetic testing, which can confirm a GSD.
Children may be prescribed medicines to manage side effects of GSD. These include: Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like arthritis during the adolescent years in patients with GSD I.
Human granulocyte colony stimulating factor GCSF may be used to treat recurrent infections in GSD type Ib patients. In certain types of GSD, children must limit their amount of exercise to reduce muscle cramps. Genetic counseling is recommended for affected individuals and their families.
Next Steps Contact Us. Congenital Hyperinsulinism Center. Buerger Center for Advanced Pediatric Care. Stay in Touch. Subscribe to HI Hope, our e-newsletter for families. Your Child's HI Appointment.
typw means Glycogdn official. Federal government websites often end in. gov or. Before sharing Glycogen storage disease type information, make sure you're on a federal government site. The site is secure. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Selenium storage Glycogen storage disease type Storags are a disrase of inherited genetic disorders that cause Glhcogen to be improperly stored in the body. Storate with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. Glycogen is the storage form of glucose in our bodies. Glucose is a simple sugar, which is a form of carbohydrate. It is found in many foods and is the main source of energy in our bodies. Glycogen storage disease type -
This is done by:. There is no way to prevent glycogen storage diseases. However, early treatment can help control the disease once a person has it. If you have a glycogen storage disease or a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
Learn about other Liver Disease States. Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:. Pittsburgh, PA In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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Children's Hospital is part of the UPMC family. UPMC Website UPMC's Story. Our Sites. Liver Disease States. Liver Transplant. Glycogen Storage Diseases GSD in Children What Is Glycogen Storage Disease?
Types of Glycogen Storage Disease The main types of glycogen storage diseases in children are categorized by number and name.
Glycogen Storage Disease Symptoms Glycogen storage disease symptoms in pediatric patients depend on its type. Results of the European study on glycogen storage disease type I EGGSD I.
Eur J Pediat. Chou JY, Matern D, Mansfield, et al. Type I glycogen Storage diseases: disorders of the glucosePhosphatase complex. Curr Mol Med. Schwahn B, Rauch F, Wendel U, Schonau E. Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control.
Visser G, Rake JP, Labrune P, et al. Consensus guidelines for management of glycogen storage disease type 1b. Results of the European study on glycogen storage disease type I.
Weinstein DA and Wolfsdorf JI. Effect of continuous gucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease.
Eur J Pediatr ; Janecke AR, Mayatepek E, and Utermann G. Molecular genetics of type I glycogen storage disease. Mol Genet Metab.
Viser G, Rake JP, Fernandes, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type 1b: results of the European study on glycogen storage disease type I.
Chen YT, Bazarre CH, Lee MM, et al. Type I glycogen storage disease: nine years of management with corn starch. INTERNET Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I.
In: Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews® [Internet]. Seattle WA : University of Washington, Seattle; NORD strives to open new assistance programs as funding allows. NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. Rare Disease Database. Glycogen Storage Disease Type I Print.
Acknowledgment NORD gratefully acknowledges Deeksha Bali, PhD, Professor, Division of Medical genetics, Department of Pediatrics, Duke Health; Co-Director, Biochemical Genetics Laboratories, Duke University Health System, and Yuan-Tsong Chen, MD, PhD, Professor, Division of Medical Genetics, Department of Pediatrics, Duke Medicine; Distinguished Research Fellow, Academia Sinica Institute of Biomedical Sciences, Taiwan for assistance in the preparation of this report.
Disease Overview Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body.
Detailed evaluations may be useful for a differential diagnosis: Forbes or Cori disease GSD-III is one of several glycogen storage disorders that are inherited as autosomal recessive traits. Genetic counseling is recommended for affected individuals and their families. For information about clinical trials being conducted at the National Institutes of Health NIH in Bethesda, MD, contact the NIH Patient Recruitment Office: Tollfree: TTY: Email: prpl cc.
Additional Assistance Programs MedicAlert Assistance Program NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. Rare Caregiver Respite Program This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.
Association for Glycogen Storage Disease AGSD. Email: info agsdus. Related Rare Diseases: Adult Polyglucosan Body Disease , Danon Disease , Pompe Disease , Metabolic Support UK.
Email: contact metabolicsupportuk. Related Rare Diseases: Glucose-Galactose Malabsorption , Sandhoff Disease , Aromatic L-Amino Acid Decarboxylase Deficiency , Phone: Email: NDDIC info.
Association for Glycogen Storage Disease UK Ltd. Phone: Email: info agsd. Related Rare Diseases: Adult Polyglucosan Body Disease , Pompe Disease , Glycogen Storage Disease Type VI , Phone: Email: info curegsd. org Fax: Related Rare Diseases: Glycogen Storage Disease Type VI , Glycogen Storage Disease Type 7 , Glycogen Storage Disease Type IX , Sign Up for NORD News.
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The genetic foci of mutations for these disorders are outlined in the following chart. Key goals are to treat or avoid hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Hypoglycemia is avoided by consuming starch, and an optimal, physically modified form is now commercially available.
Hyperuricemia is treated with allopurinol and hyperlipidemia with statins. Some GSDs like GSD type II can now be treated with enzyme replacement therapy ERT , using recombinant alglucosidase alfa, which degrades lysosomal glycogen.
There is ongoing research to use ERT with other forms of GSDs. Liver transplantation should be considered for patients with certain GSDs with progressive hepatic forms that have progressed to hepatic malignancy or failure. Though liver failure and hypoglycemia may be corrected with liver transplantation, cardiomyopathy associated with the GSD will not be corrected and may continue to progress.
Glucagon is only effective in insulin-mediated hypoglycemia and will not be helpful in patients who present with hypoglycemia secondary to a GSD.
With early diagnosis and proper management, the prognosis of most GSDs is good. Rarely, end-stage renal disease requiring kidney transplantation may occur in patients with GSD type Ib. Hypoglycemia-associated seizures and cardiac arrest can occur in early childhood.
whereas in GSD type Ib, recurrent bacterial infections secondary to neutropenia will be seen. Cardiomyopathy and limb-girdle dystrophy can be seen in patients with GSD type II. Hypertrophic cardiomyopathy is a classic complication of GSD type III.
Growth retardation and short status are also seen in GSD type IX a, b, c, d and GSD type XII, but a cognitive-developmental delay is also a feature in the latter. Patient and parent education about the dietary modifications and frequency of feeding is of utmost importance in optimizing the clinical outcomes for patients affected with these diseases.
Depending on the type of GSD affecting the patient, specific instruction will be required. Patients and parents will need specific education to monitor for signs of hypoglycemia and the increased need for glucose or carbohydrate during an acute illness such as an infection.
In patients with GLUT2 deficiency, additional education regarding oral replacement of electrolytes lost via the kidneys is essential. GSDs are a group of complex metabolic disorders best managed by an interprofessional team of clinicians, nurses, pharmacists, and dietitians.
Registered dieticians and specialty nurses play a key role in educating patients and their caregivers to ensure hypoglycemia is avoided. This not only ameliorates the risk of hypoglycemia-associated complications but also prevents long-term disease sequelae in most GSDs.
Specialty pharmacists play a pivotal role in managing GSD type II to ensure enzyme replacement therapy is carried out adequately and that the medication is administered under optimal circumstances.
Primary care clinicians, which include physicians and mid-level practitioners, and pediatricians, in coordination with specialists, help ensure patients have adequate growth and function with minimal risk of severe complications such as renal or liver failure.
All interprofessional team members should be vigilant in monitoring these patients and alert the other team embers if any complications develop or the patient's condition worsens; this requires meticulous documentation and open communication between everyone on the care team.
The key overall goal is to avoid and treat hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. A well-coordinated interprofessional team can help manage patients with these diseases adequately and ensure they live a normal life.
The development of experimental therapies, such as gene therapy, may eventually provide curative options for patients with these diseases in the future.
Glycogen Branching Polymer left Glycogen Storage Disease right Contributed by William Stone, MD. Disclosure: William Stone declares no relevant financial relationships with ineligible companies. Disclosure: Hajira Basit declares no relevant financial relationships with ineligible companies. Disclosure: Abdullah Adil declares no relevant financial relationships with ineligible companies.
This book is distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4. You are not required to obtain permission to distribute this article, provided that you credit the author and journal.
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Search term. Glycogen Storage Disease William L. Author Information and Affiliations Authors William L. Affiliations 1 East Tennessee State University. Continuing Education Activity Glycogen storage diseases GSDs are inherited inborn errors of carbohydrate metabolism.
Introduction Glycogen storage diseases GSDs are inherited inborn errors of carbohydrate metabolism. Etiology The etiology of GSDs is best understood by following the metabolic events leading to the synthesis glycogenesis and degradation of glycogen glycogenolysis.
Epidemiology The true incidence of metabolic diseases is difficult to determine given the lack of uniform, universal screening at birth. Pathophysiology As stated above, glycogen is the stored form of glucose and is composed of long polymers of 1,4 linked glucose with branch points via 1,6 linked glucose molecules.
History and Physical GSDs are a diverse set of rare inborn errors of carbohydrate metabolism that can have variable phenotypic presentation even within the same GSD type. Evaluation Hypoglycemia is defined as a plasma concentration of glucose that results in symptoms attributable to hypoglycemia and is reversed with the administration of glucose.
Biopsy Although specific genetic testing is now available for diagnosing most GSDs, histologic examination of liver or muscle biopsy is still used in specific scenarios.
Differential Diagnosis Charcot-Marie-Tooth disease. Prognosis With early diagnosis and proper management, the prognosis of most GSDs is good.
Complications Hypoglycemia-associated seizures and cardiac arrest can occur in early childhood. Deterrence and Patient Education Patient and parent education about the dietary modifications and frequency of feeding is of utmost importance in optimizing the clinical outcomes for patients affected with these diseases.
Enhancing Healthcare Team Outcomes GSDs are a group of complex metabolic disorders best managed by an interprofessional team of clinicians, nurses, pharmacists, and dietitians. Review Questions Access free multiple choice questions on this topic. Comment on this article.
Figure Glycogen Branching Polymer left Glycogen Storage Disease right Contributed by William Stone, MD. References 1. Hicks J, Wartchow E, Mierau G. Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment.
Ultrastruct Pathol. Ozen H. Glycogen storage diseases: new perspectives. World J Gastroenterol. Kanungo S, Wells K, Tribett T, El-Gharbawy A. Glycogen metabolism and glycogen storage disorders. Ann Transl Med. Kannourakis G.
Glycogen storage disease. Semin Hematol. Parikh NS, Ahlawat R. StatPearls Publishing; Treasure Island FL : Aug 8, Glycogen Storage Disease Type I. Schreuder AB, Rossi A, Grünert SC, Derks TGJ. Glycogen Storage Disease Type III. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.
GeneReviews ® [Internet]. University of Washington, Seattle; Seattle WA : Mar 9, Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS.
The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab. Applegarth DA, Toone JR, Lowry RB.
Glycogen storage disease type I GSD Storgae is an inherited disease stotage prevents the liver from Glycogne breaking down stored glycogenwhich is Gluten-free travel tips to maintain adequate Fiber optic network security sugar levels. Glycogen storage disease type I is divided into two main Glycogen storage disease type, GSD Glycogne and GSD Ib, which differ in cause, presentation, and treatment. There tyype also possibly rarer subtypes, the Glycogen storage disease type for inorganic phosphate GSD Ic or glucose GSD Id ; however, a recent study suggests that the biochemical assays used to differentiate GSD Ic and GSD Id from GSD Ib are not reliable, and are therefore GSD Ib. GSD Ia is caused by a deficiency in the enzyme glucosephosphatase ; GSD Ib, a deficiency in the transport protein glucosephosphate translocase. Because glycogenolysis is the principal metabolic mechanism by which the liver supplies glucose to the body during fastingboth deficiencies cause severe hypoglycemia and, over time, excess glycogen storage in the liver and in some cases in the kidneys. Because of the glycogen buildup, GSD I patients typically present with enlarged livers from non-alcoholic fatty liver disease.
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